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Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases
NM. Ter Haar, C. Eijkelboom, L. Cantarini, R. Papa, PA. Brogan, I. Kone-Paut, C. Modesto, M. Hofer, N. Iagaru, S. Fingerhutová, A. Insalaco, F. Licciardi, Y. Uziel, M. Jelusic, I. Nikishina, S. Nielsen, E. Papadopoulou-Alataki, AN. Olivieri, R....
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, práce podpořená grantem
NLK
ProQuest Central
od 1939-01-01 do Před 6 měsíci
Health & Medicine (ProQuest)
od 1939-01-01 do Před 6 měsíci
Family Health Database (ProQuest)
od 1939-01-01 do Před 6 měsíci
- MeSH
- antagonista receptoru pro interleukin 1 terapeutické užití MeSH
- antirevmatika terapeutické užití MeSH
- chronická nemoc MeSH
- dědičné zánětlivé autoimunitní nemoci farmakoterapie genetika patologie MeSH
- dítě MeSH
- dospělí MeSH
- genetická variace genetika MeSH
- hormony kůry nadledvin terapeutické užití MeSH
- kolchicin terapeutické užití MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- předškolní dítě MeSH
- registrace MeSH
- retrospektivní studie MeSH
- rodokmen MeSH
- věk při počátku nemoci MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Evropa MeSH
OBJECTIVES: To describe the clinical characteristics, treatment response and genetic findings in a large cohort of patients with undefined systemic autoinflammatory diseases (SAIDs). METHODS: Clinical and genetic data from patients with undefined SAIDs were extracted from the Eurofever registry, an international web-based registry that retrospectively collects clinical information on patients with autoinflammatory diseases. RESULTS: This study included 187 patients. Seven patients had a chronic disease course, 180 patients had a recurrent disease course. The median age at disease onset was 4.3 years. Patients had a median of 12 episodes per year, with a median duration of 4 days. Most commonly reported symptoms were arthralgia (n=113), myalgia (n=86), abdominal pain (n=89), fatigue (n=111), malaise (n=104) and mucocutaneous manifestations (n=128). In 24 patients, relatives were affected as well. In 15 patients, genetic variants were found in autoinflammatory genes. Patients with genetic variants more often had affected relatives compared with patients without genetic variants (p=0.005). Most patients responded well to non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, colchicine and anakinra. Complete remission was rarely achieved with NSAIDs alone. Notable patterns were found in patients with distinctive symptoms. Patients with pericarditis (n=11) were older at disease onset (33.8 years) and had fewer episodes per year (3.0/year) compared with other patients. Patients with an intellectual impairment (n=8) were younger at disease onset (2.2 years) and often had relatives affected (28.6%). CONCLUSION: This study describes the clinical characteristics of a large cohort of patients with undefined SAIDs. Among these, patients with pericarditis and intellectual impairment appear to comprise distinct subsets.
Børnereumatologisk Juliane Marie Centret Rigshospitalet København Denmark
Clinica Pediatrica e Reumatologia Istituto Giannina Gaslini Genova Italy
Department of Clinical Sciences and Community Health University of Milan Milan Italy
Department of Medical Genetics University Medical Center Utrecht Utrecht Netherlands
Department of Paediatrics University Medical Center Utrecht Utrecht Netherlands
Institute of Child Health University College London London UK
Paediatric Department Riga Stradins University Children University Hospital Rīga Latvia
Pediatric Department 5 A Nasonova Research Institute of Rheumatology Moscow Russian Federation
Pediatric Rheumatology Hospital Universitario Vall d'Hebron Barcelona Spain
Pediatric Rheumatology Ospedale Pediatrico Bambin Gesù Roma Italy
Pediatrie Institutul pentru Ocrotirea Mamei și Copilului București Romania
Citace poskytuje Crossref.org
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- $a OBJECTIVES: To describe the clinical characteristics, treatment response and genetic findings in a large cohort of patients with undefined systemic autoinflammatory diseases (SAIDs). METHODS: Clinical and genetic data from patients with undefined SAIDs were extracted from the Eurofever registry, an international web-based registry that retrospectively collects clinical information on patients with autoinflammatory diseases. RESULTS: This study included 187 patients. Seven patients had a chronic disease course, 180 patients had a recurrent disease course. The median age at disease onset was 4.3 years. Patients had a median of 12 episodes per year, with a median duration of 4 days. Most commonly reported symptoms were arthralgia (n=113), myalgia (n=86), abdominal pain (n=89), fatigue (n=111), malaise (n=104) and mucocutaneous manifestations (n=128). In 24 patients, relatives were affected as well. In 15 patients, genetic variants were found in autoinflammatory genes. Patients with genetic variants more often had affected relatives compared with patients without genetic variants (p=0.005). Most patients responded well to non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, colchicine and anakinra. Complete remission was rarely achieved with NSAIDs alone. Notable patterns were found in patients with distinctive symptoms. Patients with pericarditis (n=11) were older at disease onset (33.8 years) and had fewer episodes per year (3.0/year) compared with other patients. Patients with an intellectual impairment (n=8) were younger at disease onset (2.2 years) and often had relatives affected (28.6%). CONCLUSION: This study describes the clinical characteristics of a large cohort of patients with undefined SAIDs. Among these, patients with pericarditis and intellectual impairment appear to comprise distinct subsets.
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